rs1135401891, BRCA2

N. diseases: 7
Disease: Proline dehydrogenase deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Proline dehydrogenase deficiency
CUI: C0268529
Disease: Proline dehydrogenase deficiency
0.010 GeneticVariation BEFREE In particular, the mutation giving rise to the substitution Leu441Pro was identified in patients suffering of schizophrenia and hyperprolinemia type I. 29694413 2018